Incidental Mutation 'IGL01508:Rnf166'
ID 89128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf166
Ensembl Gene ENSMUSG00000014470
Gene Name ring finger protein 166
Synonyms 1110031E24Rik, Zfp313l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL01508
Quality Score
Status
Chromosome 8
Chromosomal Location 123192886-123202803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123197081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 57 (C57F)
Ref Sequence ENSEMBL: ENSMUSP00000014614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014614] [ENSMUST00000127664]
AlphaFold Q3U9F6
Predicted Effect probably damaging
Transcript: ENSMUST00000014614
AA Change: C57F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014614
Gene: ENSMUSG00000014470
AA Change: C57F

DomainStartEndE-ValueType
RING 33 72 3.29e-5 SMART
ZnF_C2H2 150 173 7.05e-1 SMART
ZnF_C2H2 180 208 9.56e1 SMART
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175383
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,636,326 (GRCm39) R732* probably null Het
Adarb2 C A 13: 8,802,606 (GRCm39) probably null Het
Alb C T 5: 90,618,697 (GRCm39) A430V probably benign Het
Cdhr3 A T 12: 33,103,427 (GRCm39) F397I possibly damaging Het
Cmya5 A G 13: 93,230,535 (GRCm39) S1518P probably benign Het
Col6a4 T A 9: 105,890,804 (GRCm39) Y1830F possibly damaging Het
Col6a6 A G 9: 105,604,365 (GRCm39) probably benign Het
Dnah7a T C 1: 53,666,231 (GRCm39) S599G probably benign Het
Dnai4 G A 4: 102,929,884 (GRCm39) P369L possibly damaging Het
Fbxo3 A T 2: 103,864,021 (GRCm39) H92L probably benign Het
Ffar2 T C 7: 30,518,601 (GRCm39) D313G probably benign Het
Fnta T C 8: 26,497,294 (GRCm39) E185G probably damaging Het
Gdap2 C T 3: 100,078,243 (GRCm39) T69I possibly damaging Het
Gimap7 A T 6: 48,701,230 (GRCm39) N272I probably damaging Het
Gin1 T C 1: 97,705,162 (GRCm39) V84A probably benign Het
Itga8 A G 2: 12,237,613 (GRCm39) L369P possibly damaging Het
Itgax C T 7: 127,743,990 (GRCm39) T891I probably damaging Het
Lama1 T A 17: 68,116,356 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,338,830 (GRCm39) T169A probably benign Het
Nckap5 A G 1: 125,953,309 (GRCm39) V1017A probably damaging Het
Nemf A C 12: 69,391,760 (GRCm39) probably benign Het
Osr1 A G 12: 9,629,370 (GRCm39) D81G probably damaging Het
Pate4 A T 9: 35,519,602 (GRCm39) C29* probably null Het
Prkce C T 17: 86,937,513 (GRCm39) R649C probably damaging Het
Ptpn5 A G 7: 46,741,303 (GRCm39) V14A probably benign Het
Tenm3 A G 8: 48,729,680 (GRCm39) I1426T probably benign Het
Trpm6 C T 19: 18,773,894 (GRCm39) Q424* probably null Het
Ttc27 T A 17: 75,142,352 (GRCm39) S606T probably damaging Het
Tyrp1 T C 4: 80,759,002 (GRCm39) S292P possibly damaging Het
Wdr70 A G 15: 8,108,747 (GRCm39) V133A probably benign Het
Ylpm1 T C 12: 85,062,229 (GRCm39) F252S possibly damaging Het
Other mutations in Rnf166
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02000:Rnf166 APN 8 123,193,961 (GRCm39) missense probably damaging 1.00
R4426:Rnf166 UTSW 8 123,196,979 (GRCm39) missense probably damaging 1.00
R7463:Rnf166 UTSW 8 123,194,726 (GRCm39) missense probably damaging 0.99
R9207:Rnf166 UTSW 8 123,195,068 (GRCm39) missense probably benign 0.03
R9592:Rnf166 UTSW 8 123,197,048 (GRCm39) missense probably benign 0.30
Posted On 2013-12-03